1.
Clin Case Rep
; 4(3): 265-71, 2016 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27014449
RESUMO
Maternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader-Willi-like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations. We report the coexistence of both chromosomal abnormalities in a 15-year-old girl.